Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G553E
Back to variants list

GALC

NM_000153.4:p.G553E

Associated Papers

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Asgari P et al.

Bmc Neurology, 2026

Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Sun Y et al.

Molecular Genetics & Genomic Medicine, 2025

Globoid Cell Leukodystrophy (Krabbe Disease): An Update.

Maghazachi AA

Immunotargets and Therapy, 2023

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.

He Z et al.

Neurocase, 2022

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.

Wang Y et al.

Frontiers in Neurology, 2022

[Krabbe disease (globoid cell leukodystrophy)].

Sakai N et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."